Dr. Zev Rosenwaks is the director of the Center for Reproductive Medicine and Infertility, the world-renowned infertility clinic at New York–Presbyterian Weill Cornell. He is one of the most, if not the most, respected fertility doctors in the world. With leading-man good looks that matched his celebrated reputation, Dr. Rosenwaks emanated confidence, and within minutes of meeting him we had no doubt that we were in the very best hands. He had been part of the team that produced the first test-tube baby, and he had worked on the first PGD case. In 1997, he and Dr. Hughes were able to successfully help a couple—both carriers of the recessive mutation for sickle cell disease—use IVF and PGD to achieve a pregnancy with an unaffected embryo. The couple delivered healthy twins at thirty-nine weeks’ gestation and proved that PGD can be a powerful diagnostic tool for carrier couples who want a healthy child and want to avoid the difficult decision of whether to abort an affected fetus. Dr. Rosenwaks’s success in helping women get pregnant through IVF has resulted in a celebrity following and a long waiting list.
Once our third baby was born and the umbilical cord blood was retrieved and properly prepared, Dr. John Wagner would perform Henry’s stem-cell transplant in Minneapolis. Dr. Wagner is a young, earnest, hard-working, unassuming stem-cell-transplant superstar on the rise. He specializes in Fanconi transplants, which are among the most challenging. He has watched far too many young children die. PGD was the first scientific advancement in a long time that would make his heartbreaking job easier.
As far as we knew, there was not another doctor in the world better equipped and motivated to save Henry’s life than Dr. Mark Hughes. In 1993, Dr. Hughes’s research was named “one of the ten most significant developments/discoveries in all of science” that year by Science magazine. In 1994, he published a paper in the New England Journal of Medicine describing the first successful use of PGD for disease prevention. Dr. Hughes, along with colleagues in London, had used PGD to ensure that a couple at risk of having a child with cystic fibrosis had a healthy baby instead. Dr. Hughes was among the group of nineteen leading bioethicists, sociologists, physicians, scientists, and public-policy professionals recruited by NIH to join the Human Embryo Research Panel, a federal advisory committee charged with creating guidelines for the government’s support of embryo research.
Soon thereafter, NIH recruited Dr. Hughes from his lab at Baylor College of Medicine in Houston, Texas. NIH’s National Center for Human Genome Research funded Dr. Hughes’s work through a government contract with Georgetown University, where he would continue to develop methods for extracting DNA from single cells for genetic diagnosis.
In September 1994, the Human Embryo Research Panel recommended that embryo research be funded by the federal government. The panel found that the “promise of human benefit from research is significant, carrying great potential benefit to infertile couples, families with genetic conditions, and individuals and families in need of effective therapies for a variety of diseases.” The NIH Director’s Advisory Committee reviewed and approved the panel’s report, and President Clinton approved it in December 1994, with the exception of a controversial area of research that involved the creation of human embryos for research. The approved guidelines explicitly supported Dr. Hughes’s work on PGD.
Against the recommendations of the medical and bioethics experts on the Human Embryo Research Panel, and to the heartache of families like us, who looked to this science to save our children, in 1995, Congress passed an appropriations bill that overrode the NIH guidelines and completely banned the use of federal funds for research that destroys or seriously endangers human embryos. This provision, known as the Dickey Amendment (after its original author, former Rep. Jay Dickey of Arkansas), seriously hampered Dr. Hughes’s work, significantly delayed research advances, and probably ruined a lot of sick children’s chances for survival.
The federal ban disallowed Dr. Hughes from performing his work on PGD as part of his position at NIH. It disrupted the work of countless others as well, forcing researchers to seek private funding or to give up their work entirely. Refusing to abandon his research or the families whose lives depended on it, Dr. Hughes had set up a lab as part of an IVF program at Suburban Hospital in Bethesda, Maryland, a private hospital across the street from NIH. There, with private funds, he continued his PGD work, primarily for couples anxious to screen out deadly genetic diseases.
When Allen and I first met Dr. Hughes in the fall of 1996, he made it exceptionally clear that this work was being done on his own time, independent of his work with NIH. The three of us hit it off immediately. He was about a decade older than us, but exuded youthful exuberance and clearly took delight in the possibilities that science could offer couples like us. His eyes sparkled and his smile grew as he looked at the pictures of Henry we had brought with us to the meeting. With each new picture, he paused and really looked at Henry. We thought that once he saw Henry, he couldn’t possibly turn us away. We were right.
Over lunch in Georgetown, he told us what to expect, assessed the potential for success and failure, and discussed the ethical implications. From the moment we met Dr. Hughes, his passion for science and his sense of ethical responsibility has been transparent and admirable. He spent more time talking with us about the risks associated with being among the first to try PGD than he did on its promise. It was he who would later personally meet Allen for the handoff of the cells for testing or call to deliver our test results, as difficult as those calls were, or to check in on Henry. He didn’t look at saving Henry as a means to career advancement, although it certainly would be, but as his responsibility. To him, Henry was the little boy in the picture who deserved a chance to live, taped to the wall in his lab for all to see. WE CAN SAVE HIS LIFE, read the note posted near the picture. Our frequent late-night e-mail exchanges were proof that he wouldn’t rest until he figured out how to save our son.
Over time, like us, I think that each of these doctors, as they got to know Henry, came to believe that he was invincible. For that to be true, each of them had to excel at his or her area of expertise and then hand us off to the next physician in the chain. These pioneers, and this precarious set of links, would determine the course of Henry’s life.
On January 9, 1997, when Jack was just thirteen days old, I sat on the couch in the floral nursing nightgown and matching bathrobe that Allen’s parents recently had given me. I heard a thud on our front porch and got up to get the newspaper. It was dark and cold outside. Inside, it was warm and filled with joy. Jack was healthy and thriving. We were about to start PGD. Everything was good. I returned to the couch, picked up my mug of coffee, and began to read The Washington Post.
Several pages into the front section, all that was good in my life was quickly forgotten. In bold letters over an article in the front section, I read that Dr. Mark Hughes, our savior, was being accused of violating the federal ban on embryo research with his work on PGD, in violation of the Dickey Amendment. Shocked into high alert, I sat upright and continued to read. My stomach progressively tied up in knots and it got harder to breathe. I could not believe what I was reading. It did not make any sense. Although Dr. Hughes did not conduct any embryo research at NIH, he was charged with violating the congressional ban because his PGD work at nearby Suburban Hospital—where he was already working on our case—employed NIH research fellows and scientific equipment, like a refrigerator, that NIH said had been moved to Suburban without NIH approval. While I read the words on the page, the only thing I could see written in black and white before me was one sentence.
Henry is going to die.
According to NIH sources cited in a Chicago Tribune article that same day, Dr. Hughes got into trouble because one of the four research fellows assigned to assist him, all of whom were funded by NIH, was worried that experiments they were conducting violated federal law. Apparently, the fellow reported his concern to Genome Center officials, who ordered the investigation that resulted in Dr. Hughes’s termination. I’m neither a policy expert
nor am I supportive of the federal ban on embryo research, so it seemed simply absurd that a refrigerator and one research fellow separated a brilliant doctor from the only chance my son had to live past age five. Dr. Hughes’s work wasn’t violating any law; it was saving Henry’s life. My rage was all-consuming. There I was with my newborn, my coffee, and my newspaper, filled with a fury I had never experienced before. I had no one to yell at, no one to strike. I looked over at Jack, peacefully unaware of his mother’s anguish, and sobbed.
Each new story further demonizing Dr. Hughes in the Post and other newspapers delivered a new rush of terror and shock and rage. Together they threatened to slap the joy out of my life and steal my dream of Henry’s survival.
Initially, Georgetown University released supportive statements, but the reality was that Dr. Hughes’s work did not comport with the Jesuit institution’s religious ban on embryo research. Within days, Dr. Hughes resigned from his position rather than agree to terminate his research. But without a job and access to the equipment he needed, he was denied the ability to continue the research upon which Henry’s life depended.
All the optimism and promise fueled by that first phone call from Dr. Auerbach was gone in a flash. We were desperate and scared. We had diapers to change, children to nourish, and a lot of living to do, as one-fifth of Henry’s predicted life span had already passed us by and we wanted so badly to live each day to its fullest, for happiness to win over fear. Allen and I immediately called Dr. Hughes to offer support, but there was only so much we could do, except suffer from the sidelines. Not only did Dr. Hughes have to leave his lab at Suburban Hospital, where he had been preparing for our case, he also faced congressional hearings that vilified him and threatened his career and our prospects. Six months later, as I anxiously read the testimony that Dr. Harold Varmus, director of the NIH, delivered before the investigating Senate committee, I wondered how it could be possible that Dr. Varmus and his staff didn’t know or approve of Dr. Hughes’s work on PGD, given that he had been recruited in part based on this very area of expertise.
More months passed, we waited, and Henry’s blood counts fell. Without a perfectly matched sibling donor, his transplant survival rates remained dismally low, and we did our best to cling to hope, which was more challenging with each passing day. We stayed in close contact with Dr. Hughes, Dr. Auerbach, and other members of our growing medical team in search of alternatives. Because no other doctor in the country was engaged in this groundbreaking PGD research, there was no one else to turn to. Shy of rolling the dice and getting pregnant again on our own, which had only an 18.75 percent chance of producing an HLA-matched sibling, there was nothing to do but wait.
Throughout 1997, Allen was unwavering in his belief that Dr. Hughes would soon find a suitable home for his work and would resume his efforts to help us save Henry’s life. The two kept in frequent touch via e-mail. Those correspondences, paired with Allen’s patience and focus on the endgame—specifically, Dr. Hughes’s securing a new position absent the government’s stranglehold, where he would finally be free to conduct his breakthrough research—provided Allen with all the encouragement he needed. I had moments of confidence, but far less often. Although I knew that Dr. Hughes was committed to his work and to us, I was also scared and in need of concrete evidence that things were progressing in our favor. With the passing of months and the continuing decline of Henry’s blood counts, I had an increasingly difficult time taking solace in Allen’s optimism. Without his saying it, I think Allen grew tired of my need to rehash, yet again, my mounting concern and need for additional encouragement from Dr. Hughes. Perhaps my anxiety threatened to weaken his resolve. Maybe I was just asking the wrong questions.
“Aren’t you worried that by the time Dr. Hughes finds a job, it will be too late to help Henry?” I would query nervously from my side of the bed in our darkened room at night.
“No,” Allen would reply.
And with that, the conversation would end. Over time and with practice, I learned that a better conversation starter was “I’m feeling really anxious about the amount of time Dr. Hughes is taking to get settled into a new job. How are you feeling?”
“Just look at him,” he’d say, gazing adoringly at Henry, who was building and knocking down huge block towers in our family room. “We have the best doctors and the greatest love on our side. It is all going to work out. Just not exactly on our timetable.”
Simply relating the content of these conversations denies the nuance that better characterized Allen’s and my perspectives and their effect on our relationship. I am neither a cynic nor a worrier; Allen isn’t a Pollyanna, nor is he shallow. Allen and I didn’t fight, nor did we live in silence. Our mutual aversion to conflict and our greatest common goal guided our focus toward what was good and right in our relationship—our shared values and interests, and especially our endless love for our children.
There were times, however, that I felt so damn lonely. When Henry and Jack were babies, few of our friends had children, and of those who did, none had anything approaching the issues we faced. Prior to Henry’s birth, I’d been very lucky in that things had mostly gone my way, so I had very little experience in allowing myself to be vulnerable and asking for help. Although our family and friends were clear about their desire to hold our hands all the way, no matter what, it was hard for me to be open and honest with them about the pain and fear I felt. It’s not that I didn’t talk to people. During those times, I was awfully grateful that I had friends like the Ladies of the Pines and Karen Chaikin, Debbie, Val, and Susie Weiner, who never seemed to tire of me. Karen lived in Cleveland and we logged in many hours on the telephone, talking from our respective couches, hundreds of miles apart. However, I never shared everything I truly felt; I couldn’t bear to hear the words come out of my own mouth.
Though my parents and I have always been extremely close, I couldn’t even be fully honest and open with them. Part of it may have been a reluctance to cause them additional pain by letting them know how much I was suffering. Part of it may have been that I couldn’t bear to hear how bad this experience was for them. Maybe I just didn’t want the responsibility for helping them feel better. I had very little left to give, even to them.
Although I was, and remain, resistant to joining a group whose central bond is a shared illness, I really wanted, even needed, to befriend another mother in my shoes. And so when the Fanconi Anemia Research Fund invited our family to Camp Sunshine, where more than sixty FA families meet once a year to learn from doctors and one another, Allen and I agreed that we would go. Allen’s main goal was to meet the doctors we had yet to meet and get more information on FA. My main goal was to find a friend.
In May 1997, we packed up the kids and drove to Maine. It took us nearly ten hours to get to Portland, where we spent a beautiful afternoon at Old Orchard Beach with my college roommate Jane Esselstyn; and another six to get up the nerve to leave Portland and drive the last thirty miles to Camp Sunshine in Casco, Maine.
The day we arrived, I met my friend. Her name was Lisa Nash, and she was the only other person in the world who could possibly understand what I was going through. She was the mother of the other family identified by Dr. Auerbach as fitting Dr. Hughes’s strict criteria—and she, too, was waiting for him. Like us, they had been asked not to talk with other families about PGD because it was unproven and unavailable to others who would undoubtedly crave its promise, but we could certainly talk with each other. And we did. Many, many times.
As I came to learn, Lisa and her husband, Jack Nash, had a daughter named Molly who was one year older than Henry. They lived in Denver, Colorado, and had traveled even farther to get to the gathering in Maine, desperate to learn more about the availability of PGD—and other alternatives, should Dr. Hughes be unable to help them. Like us, they got a call from Dr. Auerbach more than one year earlier, but unlike us, they were not pregnant at the time. Therefore, they started to pursue PGD right away. They were in the middle of
their first PGD attempt when the news about Dr. Hughes and the potential violation of the embryo research ban broke. As it happened, and for reasons that go well beyond my understanding of molecular genetics, their DNA sequencing was difficult to diagnose. That complicated their case and led Dr. Hughes eventually to work on our case first, after which he would focus on saving Molly. Given the uncertainties that existed and the concentration required by the research, it was easier for Dr. Hughes to focus on just one family at a time. I can only imagine how difficult it was for the Nashes to have had the opportunity to try PGD, only to have it interrupted by politics, genetics, and other things beyond their control.
Despite the assault, Dr. Hughes refused to allow politics to destroy the science, and seven months after the Post article, he found a home at a private lab at Wayne State University in Michigan, where he could continue his research. Unfortunately, all the preliminary work Dr. Hughes had done—our DNA and HLA typing, as well as our gene sequencing—was gone, as he’d been unable to take his research with him when he lost his job.
Saving Henry Page 6
